Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia.
Fukao
T
T
Department of Pediatrics, Gifu University School of Medicine, Japan.
Tashita
H
H
Teramoto
T
T
Inoue
R
R
Kaneko
H
H
Komiyama
K
K
Bar-Shira
A
A
Gilad
S
S
Shiloh
Y
Y
Nishimura
M
M
Kondo
N
N
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000473:pathology; D064007:Ataxia Telangiectasia Mutated Proteins; D001483:Base Sequence; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007564:Japan; D016254:Mutagenesis, Insertional; D009154:Mutation; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics*; D012326:RNA Splicing; D025521:Tumor Suppressor Proteins
D018797:Cell Cycle Proteins; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases